Canonical Allele Identifier: CA565221498
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs1402915751
gnomAD v2: 6-3837122-A-G
gnomAD v3: 6-3836888-A-G
gnomAD v4: 6-3836888-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3836888A>G , CM000668.2:g.3836888A>G GRCh38
NC_000006.11:g.3837122A>G , CM000668.1:g.3837122A>G GRCh37
NC_000006.10:g.3782121A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+4877A>G XP_016866218.1:n.-24+4877A>G